OBSCN

OBSCN

Identifiers Symbols OBSCN; ARHGEF30; UNC89 External IDs OMIM: 608616 HomoloGene: 70869 GeneCards: OBSCN Gene EC number 2.7.11.1

Gene Ontology
Molecular function	• protein serine/threonine kinase activity • protein tyrosine kinase activity • Rho guanyl-nucleotide exchange factor activity • protein binding • calmodulin binding • ATP binding • phospholipid binding • structural constituent of muscle • ankyrin binding • titin binding • metal ion binding
Cellular component	• cytosol • myofibril • Z disc • M band
Biological process	• apoptotic process • small GTPase mediated signal transduction • multicellular organismal development • cellular protein localization • regulation of Rho protein signal transduction • sarcomere organization • neurotrophin TRK receptor signaling pathway • regulation of small GTPase mediated signal transduction • apoptotic signaling pathway
Sources: Amigo / QuickGO

Orthologs Species Human Mouse Entrez 84033 380698 Ensembl ENSG00000154358 ENSMUSG00000061462 UniProt Q5VST9 A2AAJ9 RefSeq (mRNA) NM_001098623 NM_001003914 RefSeq (protein) NP_001092093 NP_001164983 Location (UCSC) Chr 1:
228.4 – 228.57 Mb Chr 11:
58.99 – 59.14 Mb PubMed search

Obscurin is a protein that in humans is encoded by the OBSCN gene.

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. While several transcript variants likely exist for this gene, the full-length nature of only one has been described to date.